Associated Papers
COG Complex in Golgi Trafficking and Glycosylation.
Sumya FT et al.
Sub-cellular Biochemistry, 2026
Unsupervised learning reveals landscape of local structural motifs across protein classes.
Derry A et al.
Bioinformatics (oxford, England), 2025
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Stevens CAT et al.
Journal of the American Heart Association, 2024
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
Garcia-Garcia AB et al.
Atherosclerosis, 2011
Increased intima-media thickness in carriers of the ldl-receptor defective gene versus noncarriers with newly detected asymptomatic severe hypercholesterolemia.
Vladimirova-Kitova LG et al.
Echocardiography (mount Kisco, N.y.), 2011
Two novel D151Y and M391T LDLR mutations causing LDLR transport defects in Thai patients with familial hypercholesterolemia.
Jeenduang N et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
Abifadel M et al.
Human Mutation, 2009
Molecular modeling of D151Y and M391T mutations in the LDL receptor.
Jeenduang N et al.
Biochemical and Biophysical Research Communications, 2008
Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?
Blesa S et al.
Clinical Chemistry, 2006
A single point mutation in the low-density lipoprotein receptor switches the degradation of its mature protein from the proteasome to the lysosome.
Martín de Llano JJ et al.
The International Journal of Biochemistry & Cell Biology, 2006
Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.
Maruyama T et al.
Journal of Atherosclerosis and Thrombosis, 2004
Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population.
Real JT et al.
European Journal of Human Genetics : Ejhg, 2003
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
García-García AB et al.
Human Mutation, 2001
Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.
Chaves FJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Importance of HDL cholesterol levels and the total/ HDL cholesterol ratio as a risk factor for coronary heart disease in molecularly defined heterozygous familial hypercholesterolaemia.
Real JT et al.
European Heart Journal, 2001
Five familial hypercholesterolemic kindreds in Japan with novel mutations of the LDL receptor gene.
Hirayama T et al.
Journal of Human Genetics, 1998